Publication details

 

Molecular pathology of the fibroblast growth factor family.

Basic information
Original title:Molecular pathology of the fibroblast growth factor family.
Authors:Pavel Krejčí, Jiřina Procházková, Vítězslav Bryja, Alois Kozubík, William Wilcox
Further information
Citation:KREJČÍ, Pavel, Jiřina PROCHÁZKOVÁ, Vítězslav BRYJA, Alois KOZUBÍK a William WILCOX. Molecular pathology of the fibroblast growth factor family. Human Mutation, 2009, roč. 30, č. 9, s. 1245-55. ISSN 1059-7794. doi:10.1002/humu.21067.Export BibTeX
@article{851988,
author = {Krejčí, Pavel and Procházková, Jiřina and Bryja, Vítězslav and Kozubík, Alois and Wilcox, William},
article_number = {9},
doi = {http://dx.doi.org/10.1002/humu.21067},
keywords = {fibroblast growth factor; FGF; disease; mutation; genetics; human},
language = {eng},
issn = {1059-7794},
journal = {Human Mutation},
title = {Molecular pathology of the fibroblast growth factor family.},
volume = {30},
year = {2009}
}
Original language:English
Field:Genetics and molecular biology
Type:Article in Periodical
Keywords:fibroblast growth factor; FGF; disease; mutation; genetics; human

The human fibroblast growth factor (FGF) family contains 22 proteins that regulate a plethora of physiological processes in both developing and adult organism. The mutations in the FGF genes were not known to play role in human disease until the year 2000, when mutations in FGF23 were found to cause hypophosphatemic rickets. Nine years later, seven FGFs have been associated with human disorders. These include FGF3 in Michel aplasia; FGF8 in cleft lip/palate and in hypogonadotropic hypogonadism; FGF9 in carcinoma; FGF10 in the lacrimal/salivary glands aplasia, and lacrimo-auriculo-dento-digital syndrome; FGF14 in spinocerebellar ataxia; FGF20 in Parkinson disease; and FGF23 in tumoral calcinosis and hypophosphatemic rickets. The heterogeneity in the functional consequences of FGF mutations, the modes of inheritance, pattern of involved tissues/organs, and effects in different developmental stages provide fascinating insights into the physiology of the FGF signaling system. We review the current knowledge about the molecular pathology of the FGF family.

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